Maria J. Mascari

The Frequency of Uniparental Disomy in Prader-Willi Syndrome

Maria J. Mascari, Wayne Gottlieb, Peter K. Rogan et al. · New England Journal of Medicine · 1992 · 260 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

Erik G. Puffenberger, Erick Kauffman, Stacey Bolk et al. · Human Molecular Genetics · 1994 · 243 citations

Life Sciences, Genetics, Molecular Genetics +17

Hypopigmentation in the Prader-Willi syndrome correlates withP gene deletion but not with haplotype of the hemizygousP allele

Richard A. Spritz, T. U. Bailin, Robert D. Nicholls et al. · American Journal of Medical Genetics · 1997 · 95 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Relationship of sleep abnormalities to patient genotypes in Prader-Willi syndrome

Alexandros N. Vgontzas, Anthony Kales, James R. Seip et al. · American Journal of Medical Genetics · 1996 · 73 citations

Life Sciences, Genetics, Molecular Genetics +17

Daytime Sleepines and Rem Abrormalities in Prader-Willi Syndrome: Evidence of Generalized Hypoarousal

Alexandros N. Vgontzas, Edward O. Bixler, Anthony Kales et al. · International Journal of Neuroscience · 1996 · 69 citations

Medicine, Neurology, Psychiatry +13